MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Low Vision ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042798
Disease: Low Vision
Low Vision 		0.020 GeneticVariation disease BEFREE Therefore, the type of mutation in USH2A and MYO7A genes seems to affect the age at which both auditory and visual impairment occur in patients with USH. 29142287 2017
CUI: C0042798
Disease: Low Vision
Low Vision 		0.020 Biomarker disease BEFREE Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal recessive disorder comprising hearing and visual impairment. 10704190 1999